ClinVar Miner

List of variants in gene CFTR reported as likely pathogenic by Johns Hopkins Genomics,Johns Hopkins University

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Total variants: 12
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HGVS dbSNP
NM_000492.3(CFTR):c.1505T>A (p.Ile502Asn) rs397508222
NM_000492.3(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.3(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.3(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.3(CFTR):c.57G>T (p.Trp19Cys) rs397508762
NM_000492.3(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.1150G>T (p.Glu384Ter)
NM_000492.4(CFTR):c.1390A>G (p.Lys464Glu)
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.489+3A>G rs377729736

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